Associated Papers
Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience.
Nguyen THT et al.
Future Science Oa, 2025
Prevalence of lysosomal storage disease (LSD) in Malaysia.
Omar A et al.
The Malaysian Journal of Pathology, 2025
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.
Jackson DG et al.
Molecular Genetics and Metabolism Reports, 2023
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Chan MY et al.
Orphanet Journal of Rare Diseases, 2023
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.
Yang CF et al.
Journal of Medical Genetics, 2023
Retrospective analysis of prenatal ultrasound of children with Pompe disease.
Li YL et al.
Taiwanese Journal of Obstetrics & Gynecology, 2022
Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study.
Cerón-Rodríguez M et al.
Molecular Genetics & Genomic Medicine, 2022
Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report.
Zhang Y et al.
World Journal of Clinical Cases, 2022
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.
Hsueh CY et al.
Orphanet Journal of Rare Diseases, 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS et al.
Frontiers in Immunology, 2021
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien YH et al.
Orphanet Journal of Rare Diseases, 2020
Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.
Desai AK et al.
Frontiers in Immunology, 2020
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
Desai AK et al.
Molecular Genetics and Metabolism Reports, 2019
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki K et al.
Journal of Human Genetics, 2019
A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar D et al.
Journal of Cellular Biochemistry, 2019
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
[Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases].
Yuan S et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N et al.
Clinical Chemistry, 2017
Pompe disease: literature review and case series.
Dasouki M et al.
Neurologic Clinics, 2014
Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.
Fu L et al.
Gene, 2014
[Clinical characteristics and prognosis of infantile-onset glycogen storage disease type II in 16 Chinese patients].
Fu LJ et al.
Zhonghua Yi Xue Za Zhi, 2013
The emerging phenotype of long-term survivors with infantile Pompe disease.
Prater SN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Rapid progressive course of later-onset Pompe disease in Chinese patients.
Yang CC et al.
Molecular Genetics and Metabolism, 2011
Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.
Chien YH et al.
The Journal of Pediatrics, 2011
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Labrousse P et al.
Molecular Genetics and Metabolism, 2010
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Flanagan JJ et al.
Human Mutation, 2009
Molecular diagnosis of German patients with late-onset glycogen storage disease type II.
Joshi PR et al.
Journal of Inherited Metabolic Disease, 2008
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
Kroos MA et al.
European Journal of Human Genetics : Ejhg, 2008
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
Wan L et al.
Journal of Neurology, 2008
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
McCready ME et al.
Molecular Genetics and Metabolism, 2007
[Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].
Qiu JJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
Kishnani PS et al.
The Journal of Pediatrics, 2006
Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.
Teng YT et al.
Chang Gung Medical Journal, 2004
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Hermans MM et al.
Human Mutation, 2004
Molecular genetic study of Pompe disease in Chinese patients in Taiwan.
Ko TM et al.
Human Mutation, 1999